Osteogenesis imperfecta
Gene: FAM46A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ostoegenesis Imperfecta; Fractures
Publications
Further green review by Meena Balasubramanian, so keeping green rating.Created: 15 Sep 2021, 1:42 p.m. | Last Modified: 15 Sep 2021, 1:42 p.m.
Panel Version: 2.26
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FAM46A; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Added new-gene-name tag, new approved HGNC gene symbol is TENT5ACreated: 30 Apr 2018, 9:11 a.m.
Not associated with phenotype in OMIM or G2P. Three homozygous variants reported in three unrelated cases with a severe form of osteogenesis imperfecta (OI), the first case reported in PMID: 29358272 was initially diagnosed with Stüve-Wiedemann syndrome, demonstrating the overlap between these two conditions. A mouse model homozygous for a nonsense variant manifests features (decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bones.) consistent with OICreated: 27 Feb 2018, 3:46 p.m.
Three variants identified in this gene causing osteogenesis imperfecta,
A nonsense mutation in Fam46a has been recently identified in an ENU-derived (N-ethyl-N-nitrosourea) mouse model characterised by decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bonesCreated: 13 Feb 2018, 2:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
osteogenesis imperfecta
Publications
Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII, OMIM:617952 to Osteogenesis imperfecta, type XVIII, OMIM:617952; osteogenesis imperfecta, type 18, MONDO:0044329
Phenotypes for gene: FAM46A were changed from osteogenesis imperfecta to Osteogenesis imperfecta, type XVIII, OMIM:617952
Source NHS GMS was added to FAM46A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for FAM46A were set to 29358272
FAM46A was added to Osteogenesis Imperfecta panel. Sources: Expert list
FAM46A was created by Raymond Dalgleish